IthaID: 1073


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 82 AAG>ACG HGVS Name: HBB:c.248A>C
Hb Name: Hb Rahere Protein Info: β 82(EF6) Lys>Thr

Context nucleotide sequence:
GGCCTGGCTCACCTGGACAACCTCA [A/C/G/T] GGGCACCTTTGCCACACTGAGTGAG (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLTGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

Also known as:

External Links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70972
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: English | Japanese
Molecular mechanism: Altered 2,3-DPG binding site
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Economou EP, Antonarakis SE, Dowling CC, Ibarra B, de la Mora E, Kazazian HH, Molecular heterogeneity of beta-thalassemia in mestizo Mexicans., Genomics, 11(2), 474, 1991
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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